APA 6th Edition Siala, N., Azzabi, O., Kebaier, H., Mrad, R., rebah, o., Barbouche, R., ... Maherzi, A. (2013). Omenn Syndrome : Two Case Reports. Acta Dermatovenerologica Croatica, 21 (4), 0-0. Retrieved from https://hrcak.srce.hr/116000
MLA 8th Edition Siala, Nadia, et al. "Omenn Syndrome : Two Case Reports." Acta Dermatovenerologica Croatica, vol. 21, no. 4, 2013, pp. 0-0. https://hrcak.srce.hr/116000. Accessed 7 Dec. 2021.
Chicago 17th Edition Siala, Nadia, Ons Azzabi, Hakima Kebaier, Ridha Mrad, olfa rebah, Ridha Barbouche, Mohamed Bejaoui, Sonia Halioui and Ahmed Maherzi. "Omenn Syndrome : Two Case Reports." Acta Dermatovenerologica Croatica 21, no. 4 (2013): 0-0. https://hrcak.srce.hr/116000
Harvard Siala, N., et al. (2013). 'Omenn Syndrome : Two Case Reports', Acta Dermatovenerologica Croatica, 21(4), pp. 0-0. Available at: https://hrcak.srce.hr/116000 (Accessed 07 December 2021)
Vancouver Siala N, Azzabi O, Kebaier H, Mrad R, rebah o, Barbouche R, et al. Omenn Syndrome : Two Case Reports. Acta Dermatovenerol Croat. [Internet]. 2013 [cited 2021 December 07];21(4):0-0. Available from: https://hrcak.srce.hr/116000
IEEE N. Siala, et al., "Omenn Syndrome : Two Case Reports", Acta Dermatovenerologica Croatica, vol.21, no. 4, pp. 0-0, 2013. [Online]. Available: https://hrcak.srce.hr/116000. [Accessed: 07 December 2021]
Omenn syndrome is a variant of combined severe immunodeficiency due to mutations in RAG genes. It is characterized by polymorph symptoms and lethal outcome. We report on two cases of Omenn syndrome. Infants were aged 50 and 46 days. The clinical and biological signs were typical and complete in the first case. In the second case, only the cutaneous signs were present. Diagnosis was confirmed by genetic study. The Rag1 T631 mutation was found in these two patients. Hematopoietic stem cell transplantation could not be done and the evolution was fatal in both cases because of severe infectious episodes. Prenatal diagnosis was performed in the two families and each family has currently a healthy child. In conclusion, early diagnosis of Omenn syndrome may avoid infectious complications responsible for delay in therapeutic management. Genetic study confirms the diagnosis. The treatment usually consists of hematopoietic stem cell transplantation in association with immunosuppressive drugs. Prenatal diagnosis is very important to allow parents to have healthy children.